E39K (p.Glu39Lys) variant of NPM1 (Nucleophosmin)
E39K (p.Glu39Lys) in NPM1 (Nucleophosmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
E39K (p.Glu39Lys) variant details
- p.Glu39Lys
- gnomAD 5-171390107-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- REVEL 0.38
- CADD 33.00
- PolyPhen-2 0.45
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available